MCID: PSD012
MIFTS: 55

Pseudoachondroplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Pseudoachondroplasia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Pseudoachondroplasia:

Name: Pseudoachondroplasia 49 10 11 21 45 22 23 12 51 65 67
Pseudoachondroplastic Dysplasia 10 45 22 23 51 67
Psach 21 45 22 23 47 67
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 45 23 24
 
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 10 45
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 45 51
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
pseudoachondroplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 177170
Disease Ontology10 DOID:0080047
Orphanet51 750
ICD10 via Orphanet28 Q77.8
MESH via Orphanet37 C535819
UMLS via Orphanet66 C0410538
MedGen34 C0410538
MeSH36 D010009

Summaries for Pseudoachondroplasia

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NIH Rare Diseases:45 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards based summary: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to achondroplasia and diastrophic dysplasia, and has symptoms including abnormality of the metaphyses, brachydactyly syndrome and abnormality of the metacarpal bones. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways are Gastric cancer network 2 and NCAM1 interactions. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Disease Ontology:10 An osteochondrodysplasia that has material basis in mutations in the comp gene which results in short limb dwarfism.

Genetics Home Reference:23 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM:49 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature,... (177170) more...

UniProtKB/Swiss-Prot:67 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Wikipedia:68 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

GeneReviews summary for psach

Related Diseases for Pseudoachondroplasia

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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia30.4ACAN, COMP
2diastrophic dysplasia30.4COL2A1, COMP, SLC26A2
3multiple epiphyseal dysplasia10.7
4asphyxiating thoracic dystrophy10.4
5skeletal dysplasias10.4
6skeletal dysplasia10.4
7epiphyseal dysplasia, multiple, 410.2COMP, SLC26A2
8cervicitis10.2
9dwarfism10.2
10benign focal amyotrophy10.2COL9A2, COL9A3
11neurogenic arthropathy10.2DCN, MATN3
12immunodeficiency 3010.2COMP, SCN8A
13brachydactyly, type a1, c10.1COL2A1, COMP
14interstitial lung disease10.1COL9A1, DCN
15achondrogenesis ib10.1DCN, SLC26A2
16autoimmune disease of central nervous system10.1COL2A1, COL9A3
17distal arthrogryposis10.1COL9A2, COMP, SLC26A2
18vitreoretinochoroidopathy dominant10.1COL2A1, COL9A2
19macrogyria, pseudobulbar palsy and mental retardation10.1COL2A1, COL9A1
20transient cerebral ischemia10.1ACAN, COMP
21exercise-induced hyperinsulinism10.1COL9A1, COL9A2, COL9A3
22hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism10.1COL9A1, COL9A2, COL9A3
23darier disease10.1COL2A1, COMP, SLC26A2
24asthma10.1
25tendinopathy10.1
26osteogenesis imperfecta10.1
27cerebritis10.1
28myopathy10.1
29pseudoachondroplastic dysplasia 210.1
30odontoma10.0ACAN, DCN
31kniest dysplasia10.0COL2A1, COMP
32dengue disease10.0ACAN, COL9A3
33retinal disease10.0COL2A1, COL9A1, COL9A2
34osteonecrosis10.0ACAN, COL2A1
35bone development disease10.0ACAN, COL9A2, COL9A3
36delayed sleep phase syndrome10.0COL2A1, COL9A2
37jaw cancer9.9ACAN, COL2A1
38skeleto cardiac syndrome with thrombocytopenia9.9COL2A1, COMP, MATN3, SLC26A2
39intervertebral disc disease9.9COL9A2, COL9A3
40spondyloepiphyseal dysplasia with congenital joint dislocations9.9ACAN, COL2A1
41cataract9.9ACAN, COL2A1, COMP
42achondrogenesis, type ii or hypochondrogenesis9.9ACAN, COL2A1, COMP
43hyperandrogenism9.9ACAN, COL2A1, COMP
44constipation9.9COL2A1, COMP, SLC26A2
45leber congenital amaurosis 39.9ACAN, COL2A1, SLC26A2
46spondyloepimetaphyseal dysplasia9.9ACAN, COL2A1, MATN3
47borderline glaucoma9.9ACAN, COL2A1, COL9A3
48hypochondrogenesis9.9COL2A1, COL9A1, COL9A2, COL9A3
49multiple epiphyseal dysplasia, recessive9.8COL9A1, COL9A2, COL9A3, COMP, MATN3
50slc16a1-related hyperinsulinism9.8ACAN, COL2A1, COMP, SLC26A2

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Symptoms for Pseudoachondroplasia

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Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Symptoms:

 51 (show all 24)
  • short limbs/micromelia/brachymelia
  • wrist/carpal anomalies
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • delayed bone age
  • metaphyseal anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • lordosis
  • scoliosis
  • platyspondyly
  • short foot/brachydactyly of toes
  • abnormal gait
  • articular/joint pain/arthralgia
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • kyphosis
  • odontoid hypoplasia
  • genu valgum
  • genu varum

HPO human phenotypes related to Pseudoachondroplasia:

(show all 59)
id Description Frequency HPO Source Accession
1 abnormality of the metaphyses hallmark (90%) HP:0000944
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 abnormality of the metacarpal bones hallmark (90%) HP:0001163
4 delayed skeletal maturation hallmark (90%) HP:0002750
5 micromelia hallmark (90%) HP:0002983
6 abnormality of the hip bone hallmark (90%) HP:0003272
7 platyspondyly typical (50%) HP:0000926
8 gait disturbance typical (50%) HP:0001288
9 limitation of joint mobility typical (50%) HP:0001376
10 joint hypermobility typical (50%) HP:0001382
11 short toe typical (50%) HP:0001831
12 scoliosis typical (50%) HP:0002650
13 osteoarthritis typical (50%) HP:0002758
14 arthralgia typical (50%) HP:0002829
15 hyperlordosis typical (50%) HP:0003307
16 kyphosis occasional (7.5%) HP:0002808
17 genu valgum occasional (7.5%) HP:0002857
18 genu varum occasional (7.5%) HP:0002970
19 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
20 autosomal dominant inheritance HP:0000006
21 sensory neuropathy HP:0000763
22 platyspondyly HP:0000926
23 brachydactyly syndrome HP:0001156
24 limited elbow extension HP:0001377
25 degenerative joint disease HP:0001379
26 ligamentous laxity HP:0001380
27 joint laxity HP:0001388
28 carpal bone hypoplasia HP:0001498
29 cervical cord compression HP:0002341
30 waddling gait HP:0002515
31 scoliosis HP:0002650
32 delayed epiphyseal ossification HP:0002663
33 osteoarthritis HP:0002758
34 kyphosis HP:0002808
35 genu recurvatum HP:0002816
36 arthralgia HP:0002829
37 flared femoral metaphysis HP:0002834
38 genu valgum HP:0002857
39 lumbar hyperlordosis HP:0002938
40 genu varum HP:0002970
41 short long bone HP:0003026
42 ulnar deviation of the wrist HP:0003049
43 limited hip extension HP:0003093
44 hypoplasia of the odontoid process HP:0003311
45 atlantoaxial dislocation HP:0003414
46 radial metaphyseal irregularity HP:0004019
47 ulnar metaphyseal irregularity HP:0004042
48 irregular carpal bones HP:0004236
49 beaking of vertebral bodies HP:0004568
50 fragmented, irregular epiphyses HP:0005063
51 disproportionate short-limb short stature HP:0008873
52 ulnar deviation of the hand HP:0009487
53 short distal phalanx of finger HP:0009882
54 short metacarpal HP:0010049
55 small epiphyses of the phalanges of the hand HP:0010236
56 irregular epiphyses HP:0010582
57 childhood onset short-limb short stature HP:0011405
58 spatulate ribs HP:0012307
59 fragmented epiphyses HP:0100168

Drugs & Therapeutics for Pseudoachondroplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplasia22 COMP
2 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome24

Anatomical Context for Pseudoachondroplasia

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MalaCards organs/tissues related to Pseudoachondroplasia:

33
Bone

Animal Models for Pseudoachondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Pseudoachondroplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9ACAN, COL2A1, COL9A1, SCN8A
2MP:00053718.1ACAN, COL2A1, COL9A1, COMP, MATN3, SLC26A2
3MP:00053907.3ACAN, COL2A1, COL9A1, COMP, DCN, MATN3
4MP:00053787.2ACAN, COL2A1, COMP, DCN, MATN3, SCN8A
5MP:00053876.9ACAN, COL2A1, COL9A1, COMP, DCN, MATN3

Publications for Pseudoachondroplasia

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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. (25859006)
2015
2
Pseudoachondroplasia and painful sequelae. (26177939)
2015
3
Pseudoachondroplasia: a case report. (24364233)
2013
4
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. (24194321)
2013
5
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. (22006726)
2012
6
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. (22154935)
2012
7
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (21644213)
2011
8
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. (21599986)
2011
9
Difficult to control asthma in the patient with pseudoachondroplasia. (22675014)
2011
10
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype. (21042783)
2010
11
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (20819661)
2010
12
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (20830670)
2010
13
Deformity correction with external fixator in pseudoachondroplasia. (16957646)
2007
14
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. (17588960)
2007
15
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. (17579668)
2007
16
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. (16514635)
2006
17
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. (16928687)
2006
18
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. (16286662)
2006
19
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
20
Mesomelic dwarfism in pseudoachondroplasia. (15552564)
2004
21
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). (14580238)
2004
22
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304)
2003
23
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
24
A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. (11745002)
2002
25
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. (11746044)
2001
26
Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. (11691584)
2001
27
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (11746045)
2001
28
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)
1999
29
Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. (9632164)
1998
30
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
31
Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein. (9452063)
1998
32
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. (9749943)
1998
33
Mosaicism in pseudoachondroplasia. (9188668)
1997
34
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
35
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
36
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472)
1995
37
Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia. (8074142)
1994
38
Linkage of typical pseudoachondroplasia to chromosome 19. (8307577)
1993
39
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. (1442879)
1992
40
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. (1670752)
1991
41
Pseudoachondroplasia with immune deficiency. (3263611)
1988
42
Severe pseudoachondroplasia with parental consanguinity. (3989835)
1985
43
Pseudoachondroplasia: biochemical and histochemical studies of cartilage. (6438109)
1984
44
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
45
The biochemical defect of pseudoachondroplasia. (7117284)
1982
46
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
47
Pseudoachondroplasia, a report of 13 cases. (871597)
1977
48
Pseudoachondroplasia. (1201340)
1975
49
Picture of the month. Pseudoachondroplasia (pseudoachondroplastic spondlyloepiphyseal dysplasia). (4440652)
1974
50
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. (4333078)
1972

Variations for Pseudoachondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

67 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632
9COMPp.Asp472TyrVAR_007634
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641
14COMPp.Thr585ArgVAR_007642
15COMPp.Cys348ArgVAR_017102
16COMPp.Gly719AspVAR_017103
17COMPp.Pro234SerVAR_066790
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825
30COMPp.Gly719SerVAR_066828

Clinvar genetic disease variations for Pseudoachondroplasia:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1COMPCOMP, 3-BP DEL, (GAC)2deletionPathogenic
2COMPNM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del)deletionPathogenicrs312262897GRCh37Chr 19, 18896845: 18896847
3COMPNM_000095.2(COMP): c.1586C> T (p.Thr529Ile)single nucleotide variantPathogenicrs312262903GRCh37Chr 19, 18896565: 18896565
4COMPNM_000095.2: c.1679A> Gsingle nucleotide variantPathogenic
5COMPNM_000095.2(COMP): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs312262899GRCh37Chr 19, 18895873: 18895873
6COMPNM_000095.2(COMP): c.1754C> A (p.Thr585Lys)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
8COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
9COMPNM_000095.2(COMP): c.1760A> G (p.His587Arg)single nucleotide variantPathogenicrs312262901GRCh37Chr 19, 18895860: 18895860
10COMPNM_000095.2(COMP): c.2155G> A (p.Gly719Ser)single nucleotide variantPathogenicrs312262904GRCh37Chr 19, 18893936: 18893936
11COMPNM_000095.2(COMP): c.1414G> T (p.Asp472Tyr)single nucleotide variantPathogenicrs137852650GRCh37Chr 19, 18896850: 18896850
12COMPNM_000095.2(COMP): c.1403G> A (p.Cys468Tyr)single nucleotide variantPathogenicrs137852651GRCh37Chr 19, 18896861: 18896861
13COMPCOMP, 3-BP DEL, 459TCA, SER459DELdeletionPathogenic
14COMPCOMP, 3-BP DEL, (GAC)4deletionPathogenic
15COMPNM_000095.2(COMP): c.982T> C (p.Cys328Arg)single nucleotide variantPathogenicrs137852653GRCh37Chr 19, 18898453: 18898453
16COMPNM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp)NT expansionPathogenicGRCh37Chr 19, 18896845: 18896847
17COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
18COMPNM_000095.2(COMP): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs137852655GRCh37Chr 19, 18893935: 18893935
19COMPNM_000095.2(COMP): c.1042T> C (p.Cys348Arg)single nucleotide variantPathogenicrs137852656GRCh37Chr 19, 18898393: 18898393
20COMPCOMP, EX9DELdeletionPathogenic

Expression for genes affiliated with Pseudoachondroplasia

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Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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GO Terms for genes affiliated with Pseudoachondroplasia

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Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type IX trimerGO:00055949.8COL9A1, COL9A2, COL9A3
2extracellular matrixGO:00310128.2ACAN, COL2A1, COMP, DCN
3endoplasmic reticulum lumenGO:00057887.9COL2A1, COL9A1, COL9A2, COL9A3, P4HB
4proteinaceous extracellular matrixGO:00055787.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP
5extracellular regionGO:00055766.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1growth plate cartilage developmentGO:000341710.3COL9A1, COMP
2chondrocyte differentiationGO:000206210.0COL2A1, MATN3
3tissue homeostasisGO:00018949.8COL2A1, COL9A1
4cartilage condensationGO:00015029.8ACAN, COL2A1
5collagen fibril organizationGO:00301999.6ACAN, COL2A1
6organ morphogenesisGO:00098879.5COL9A1, COMP, DCN
7glycosaminoglycan metabolic processGO:00302039.3ACAN, DCN, SLC26A2
8skeletal system developmentGO:00015018.7ACAN, COL2A1, COL9A2, COMP, MATN3
9collagen catabolic processGO:00305748.7COL2A1, COL9A1, COL9A2, COL9A3
10axon guidanceGO:00074118.5COL2A1, COL9A1, COL9A2, COL9A3
11extracellular matrix disassemblyGO:00226177.7ACAN, COL2A1, COL9A1, COL9A2, COL9A3, DCN
12extracellular matrix organizationGO:00301986.2ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP

Molecular functions related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.8ACAN, COL2A1, COMP, MATN3
2extracellular matrix structural constituent conferring tensile strengthGO:00300208.7COL2A1, COL9A1, COL9A2, COL9A3

Sources for Pseudoachondroplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet